Genome Sequencing helps diagnosing rare disorder

Genome Sequencing helps diagnosing rare disorder
Noah and Beery were diagnosed with cerebral palsy nearly 13 years ago. At the age of 5 yrs they were diagnosed as Dopa-responsive Dystonia (DRD). It is a complex movement disorder involving the loss of the neurotransmitter dopamine.
The muscles of people with dystonia contract and spasm involuntarily. The twins were given L-dopa, which substitutes for the neurotransmitter dopamine they lacked, and they responded quickly. But there were still some lingering symptoms.
6 years ago, Alexis developed a cough that became increasingly debilitation and a massive breathing problem developed.
As luck would have it that the twins’ father had recently taken a job as chief information officer for the Life Technologies, maker of gene sequencing machines.The genomes sequencing of the children were done. When the researchers analyzed raw DNA sequence data from the twins’ genome, they were surprised to find no mutations in the two genes commonly mutated in DRD. Instead the team discovered that the twins carried a mutated gene related to serotonin production that made them deficient in both dopamine and serotonin. Serotonin is another neurotransmitter.
The twins were given a serotonin-inducing supplement called 5-HTP to their Dopamine regimen and this improved their symptoms dramatically within a few weeks.Because of the genome sequencing, and Alexis taking this new amino acid, is able to run on tracks and has been winning races. Seeing them now one would say that there is nothing wrong with them!
The cost of this genome sequencing is not within reach of most of our population. At present it costs $ 10,000 to $ 20,000 per patient. But, companies such as Illumina, Life Technologies Corp and Roche Holding are working to bring down the cost. It is expected that the cost of genome sequencing is going to drop very fast in near future and it is hoped that in very near future the cost may come down within reach of very many patients.


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